Canonical Allele Identifier: CA360949416

Gene: RAD50

Linked Data

• MyVariant Identifiers: chr5:g.131931318G>T (hg19) ; chr5:g.132595626G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132595626G>T , CM000667.2:g.132595626G>T	GRCh38
NC_000005.9:g.131931318G>T , CM000667.1:g.131931318G>T	GRCh37
NC_000005.8:g.131959217G>T	NCBI36
NG_021151.1:g.43703G>T
NG_021151.2:g.43650G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2023G>T MANE Select	ENSP00000368100.4:p.Asp675Tyr
ENST00000638452.2:c.1726G>T	ENSP00000492349.2:p.Asp576Tyr
ENST00000638504.1:n.1631G>T
ENST00000638568.2:c.1726G>T	ENSP00000491158.2:p.Asp576Tyr
ENST00000639899.1:n.2542G>T
ENST00000640655.2:c.1726G>T	ENSP00000491596.2:p.Asp576Tyr
ENST00000651160.1:c.*167G>T	ENSP00000498829.1:n.*167G>T
ENST00000651658.1:n.2566G>T
ENST00000651723.1:c.*2106G>T	ENSP00000498237.1:n.*2106G>T
ENST00000652016.1:c.*240G>T	ENSP00000498267.1:n.*240G>T
ENST00000652485.1:c.2056G>T	ENSP00000498973.1:p.Asp686Tyr
ENST00000378823.7:c.2023G>T	ENSP00000368100.4:p.Asp675Tyr
ENST00000423956.5:c.*209G>T	ENSP00000390971.1:n.*209G>T
ENST00000453394.5:c.1840G>T	ENSP00000400049.1:p.Asp614Tyr
ENST00000496204.1:n.106G>T
ENST00000533482.5:c.*1649G>T	ENSP00000431225.1:n.*1649G>T
NM_005732.3:c.2023G>T	NP_005723.2:p.Asp675Tyr
NM_005732.4:c.2023G>T MANE Select	NP_005723.2:p.Asp675Tyr